Newborn screening for certain treatable inborn errors of metabolism in Alexandria

ABSTRACT

As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than the just testing, but also involves follow up, diagnosis, treatment, and evaluation. Newborn screening is aimed at early detection and intervention of treatable inborn errors of metabolism and also at establishing the incidence of these disorders. Specimens of dried blood spots were collected from infants born in Alexandria, attending 13 Health Offices in different Districts of Alexandria for BCG vaccination, and the tests were done in the Human Genetics Department, Medical Research Institute, Alexandria University. The total number screened was 3000 infants, of them; one [0.033%] infant had hyperphenylalaninemia, one [0.033%] infant had classic galactosemia and 11 [0.37%] infants had high level of thyroid stimulating hormone [TSH], on confirmatory test, 9 of them were found to be euthyroid